About thoracoabdominal syndrome

What is thoracoabdominal syndrome?

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.

What are the symptoms for thoracoabdominal syndrome?

The specific symptoms and severity of pentalogy of Cantrell can vary dramatically from one person to another. Some infants may have mild defects with incomplete expression of the disorder. Other infants may have serious, life-threatening complications. It is important to note that affected individuals will not necessarily have all of the symptoms discussed below. Parents of caregivers of individuals with this condition should talk to their physician and medical team about their specific case, associated symptoms, and overall prognosis.

The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. Ectopia cordis is a severe condition in which the heart is completely or partially displaced outside of the thoracic cavity and therefore not protected by the chest wall. Ectopia cordis is frequently, but not always associated with pentalogy of Cantrell.

Omphalocele is an abdominal wall defect in which part of an infant’s intestines and abdominal organs protrude or stick out through the bellybutton. The intestines and organs are covered by a thin membrane or sac. An omphalocele may be small, in which the intestines protrude, or large, in which both intestines and abdominal organs protrude.

In some cases, omphalocele may not be present. Other forms of abdominal wall defects that can occur in pentalogy of Cantrell include wide separation (diastasis) of certain abdominal muscles or, less frequently, the intestines may protrude through a defect to either side of the umbilical cord (gastroschisis).

Abnormalities affecting the sternum can range from complete absence of the cartilage prominence at the end of the sternum (xiphoid) to complete absence of the sternum. In some cases, the sternum may be cleft or abnormally short.

Defects of the thin membranous, fluid-filled sac that lines the heart (pericardium) may occur in pentalogy of Cantrell, specifically in the lower portion where it meets the diaphragm. Affected infants may also have a hole in the diaphragm allowing the contents of the abdomen to protrude into the chest (congenital diaphragmatic hernia).

Infants with pentalogy of Cantrell can have a wide variety of congenital heart defects including a “hole in the heart” between the two lower chambers (ventricles) of the heart (ventricular septal defects), a “hole in the heart” between the two upper chambers (atria) of the heart (atrial septal defects), abnormal location of the heart on the right side of chest instead of the left (dextrocardia), and tetralogy of Fallot, a condition in which four anatomical defects of the heart occur together. (For more information on these heart defects, choose the specific name as your search term in the Rare Disease Database.) Other complex congenital heart abnormalities may also be identified. The type and severity of congenital heart defects can vary from one infant to another.

The various defects potentially associated with pentalogy of Cantrell can cause a wide variety of serious issues including underdevelopment of the lungs, breathing (respiratory) difficulties, embolism (plugged blood vessel), and impaired function of the heart. Infants with pentalogy of Cantrell are at risk of developing widespread internal infection of the abdominal cavity.

Additional anomalies have been reported in some infants with pentalogy of Cantrell. Such anomalies include cleft lip, cleft palate, malformation (dysplasia) of the kidneys, a fluid-filled mass or sac in the head or neck area (cystic hygroma), limb defects (club feet, absent Bones in the arms or legs) and birth defects of the brain and spinal cord (neural tube defects).

What are the causes for thoracoabdominal syndrome?

The exact cause of pentalogy of Cantrell is unknown. Most cases occur randomly for no apparent reason (sporadically). One theory suggests that the symptoms of pentalogy of Cantrell occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. Several familial cases have been reported, and some researchers have suggested that genetic factors may play a role in the development of the disorder. More research is necessary to determine the exact, underlying cause(s) of pentalogy of Cantrell.

What are the treatments for thoracoabdominal syndrome?

The treatment of pentalogy of Cantrell is directed toward the specific symptoms that are apparent in each individual. Surgical intervention for cardiac, diaphragmatic and other associated defects is necessary. Affected infants will require complex medical care and may require surgical intervention. In most cases, pentalogy of Cantrell is fatal without surgical intervention. However, in some cases, the defects are so severe that the individual dies regardless of the medical or surgical interventions received.

The specific treatment strategy will vary from one infant to another based upon various factors, including the size and type of abdominal wall defect, the specific cardiac anomalies that are present, and the particular type of ectopia cordis. Surgical procedures that may be required shortly after birth include repair of an omphalocele. At this time, physicians may also attempt to repair certain other defects including defects of the sternum, diaphragm and the pericardium.

In severe cases, some physicians advocate for a staged repair of the defects associated with pentalogy of Cantrell. The initial operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect and repair of the omphalocele. After appropriate growth of the thoracic cavity and lungs, the second stage consists of the repair of cardiac defects and return of the heart to the chest. Eventually, usually by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary.

Other treatment of pentalogy of Cantrell is symptomatic and supportive.

What are the risk factors for thoracoabdominal syndrome?

One of the rare disorders with birth in an infant (maximum males) is called Thoracoabdominal Syndrome.

  • Due to its association with all the crucial blood-vessel that connect parts of the heart and abdomen, it affects the area from the lungs, spine, and breastbone to the abdominal area and intestines.
    •Furthermore, it is linked with the defect of the diaphragm (the most significant respiratory muscle that helps in breathing), the abdominal wall (line of the abdominal cavity), and lines of the heart.
    •All the five defects mentioned do not always present together in a baby. When there are few defects out of these present, mild symptoms suggest it’s a Thoracoabdominal Syndrome.
  • The risk factors for the birth of a child with this defect are not very specific and are still unknown.
    •The only common characteristic is that it is usually found in families with the same.
    •So it might be genetic and is still not completely proven.
  • Overweight
    •Gender (Males are affected with more probability)
    •Injuries in the Region
    •Old Age
    •Infections in the Region
    •Genetic Disorders
    •High BP
    •High Cholesterol
    •Family History with Heart-Related Ailments
Few of the defects of Thoracoabdominal Syndrome in an adult can be taken care of by keeping a healthy diet and light exercises included in a routine. It can help you in living your life like a normal healthy person.

In babies: Displaced Heart Outside,Intestines and abdominal organs protruded,Defect in umbilical Cord,Hernia in the abdominal wall,Incomplete development of Lungs

In adults: Low BP,Intense Abdominal Pain,Dizziness,Increased heart rate

Heart Beating Issues,Severe Disorder By Birth,Intestinal Protruding,Underdeveloped Diaphragm,Blood Vessel Disease.

Beta blockers,Angiotensin II receptor blockers,Statins

Is there a cure/medications for thoracoabdominal syndrome?

The patients suffering from Thoracoabdominal Syndrome survive only when their body includes either two or three defects out of five.

  • The disorder is congenital (by birth), and with all the defects in an infant’s body, the disease is regarded as fatal with low chances of survival for a baby.
    •The connecting blood vessel from the heart to the rest of the body is called the Aorta.
    •Its walls which extend from chest to abdomen, get swelled up and weaken in an adult body. It gives rise to this Thoracoabdominal Syndrome.
    •It can get diagnosed in unborn babies through exact conditions of the heart and abdominal region.
    •But with few defects in adults, once the symptoms are seen, proper MRIs and Angiographies should be performed for a detailed report of the disease spread.
  • There are no specific cures or medications for infants born with this syndrome. But with varied sizes and types of abdominal defects, doctors perform surgeries to normalize a child.
    •With few defects in a baby, proper diet, active medical support, and regular check-ups can help a child grow like any other healthy child.
  • Operating right after the birth of a baby is the first stage of surgery for separating the organs from each other.
    •A child is under observation after the first stage; second stage operations begin to repair the defects of the heart and place it inside the chest.
  • Infants or newborns get the medications through medical support. Adults can get the available medicines for heart issues only prescribed by doctors.
In babies: Displaced Heart Outside,Intestines and abdominal organs protruded,Defect in umbilical Cord,Hernia in the abdominal wall,Incomplete development of Lungs

In adults: Low BP,Intense Abdominal Pain,Dizziness,Increased heart rate

Heart Beating Issues,Severe Disorder By Birth,Intestinal Protruding,Underdeveloped Diaphragm,Blood Vessel Disease.

Beta blockers,Angiotensin II receptor blockers,Statins

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